Linked Data
ClinVar Variation Id:
1491704
ClinVar RCV Id:
RCV001988838
dbSNP Id:
rs2130667997
gnomAD v4:
8-99776803-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776803A>G , CM000670.2:g.99776803A>G | GRCh38 |
| NC_000008.10:g.100789031A>G , CM000670.1:g.100789031A>G | GRCh37 |
| NC_000008.9:g.100858207A>G | NCBI36 |
| NG_007098.2:g.768538A>G , LRG_351:g.768538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7351A>G | ENSP00000507923.1:p.Thr2451Ala | |
| ENST00000682358.1:n.7421A>G | ||
| ENST00000683334.1:c.*3033A>G | ENSP00000507369.1:n.*3033A>G | |
| ENST00000357162.7:c.7276A>G MANE Select | ENSP00000349685.2:p.Thr2426Ala | |
| ENST00000358544.7:c.7351A>G MANE Plus Clinical | ENSP00000351346.2:p.Thr2451Ala | |
| ENST00000357162.6:c.7276A>G | ENSP00000349685.2:p.Thr2426Ala | |
| ENST00000358544.6:c.7351A>G | ENSP00000351346.2:p.Thr2451Ala | |
| ENST00000518569.1:n.378-1879A>G | ||
| NM_017890.4:c.7351A>G , LRG_351t1:c.7351A>G | NP_060360.3:p.Thr2451Ala | |
| NM_152564.4:c.7276A>G , LRG_351t2:c.7276A>G | NP_689777.3:p.Thr2426Ala | |
| XM_005250800.2:c.7351A>G | XP_005250857.1:p.Thr2451Ala | |
| XM_005250801.3:c.7351A>G | XP_005250858.1:p.Thr2451Ala | |
| XM_011516848.1:c.7348A>G | XP_011515150.1:p.Thr2450Ala | |
| XM_011516849.1:c.7273A>G | XP_011515151.1:p.Thr2425Ala | |
| XM_011516850.1:c.6973A>G | XP_011515152.1:p.Thr2325Ala | |
| XM_011516851.1:c.4237A>G | XP_011515153.1:p.Thr1413Ala | |
| XM_011516852.1:c.4237A>G | XP_011515154.1:p.Thr1413Ala | |
| XM_011516853.1:c.7351A>G | XP_011515155.1:p.Thr2451Ala | |
| XM_011516854.1:c.3130A>G | XP_011515156.1:p.Thr1044Ala | |
| XR_928446.1:n.1830+5675T>C | ||
| XM_005250800.3:c.7351A>G | XP_005250857.1:p.Thr2451Ala | |
| XM_005250801.5:c.7351A>G | XP_005250858.1:p.Thr2451Ala | |
| XM_011516848.2:c.7348A>G | XP_011515150.1:p.Thr2450Ala | |
| XM_011516849.2:c.7273A>G | XP_011515151.1:p.Thr2425Ala | |
| XM_011516850.2:c.6973A>G | XP_011515152.1:p.Thr2325Ala | |
| XM_011516851.2:c.4237A>G | XP_011515153.1:p.Thr1413Ala | |
| XM_011516852.2:c.4237A>G | XP_011515154.1:p.Thr1413Ala | |
| XM_011516853.2:c.7351A>G | XP_011515155.1:p.Thr2451Ala | |
| XM_011516854.2:c.3130A>G | XP_011515156.1:p.Thr1044Ala | |
| XM_017013109.1:c.7156A>G | XP_016868598.1:p.Thr2386Ala | |
| XM_017013111.1:c.4237A>G | XP_016868600.1:p.Thr1413Ala | |
| XM_017013112.1:c.2908A>G | XP_016868601.1:p.Thr970Ala | |
| XM_024447074.1:c.6136A>G | XP_024302842.1:p.Thr2046Ala | |
| NM_017890.5:c.7351A>G MANE Plus Clinical | NP_060360.3:p.Thr2451Ala | |
| NM_152564.5:c.7276A>G MANE Select | NP_689777.3:p.Thr2426Ala |